We developed a conceptual framework capable of capturing the heterogenous symptomatology in three functionally distinct groups of adults living with SMA (walkers, sitters and non-sitters). Development comprised: A) A targeted literature search focused on neuromuscular disorders to identify common neurological domains evaluated in these disorders; B) Creation of an adult SMA conceptual framework covering signs and symptoms (nineteen signs and symptoms grouped into four domains); and C) Seven semi-structured interviews conducted with adult SMA experts (five physicians and two physiotherapists).

Experts endorsed the completeness of the conceptual framework for describing the three SMA functional profiles. Fatigability and smartphone typing skills are considered useful to monitor disease progression for all functional profiles. Upper limb function and speech/voice are expected to provide more information about disease progression and impacts on quality of life for sitters and non-sitters, while lower limb function is more relevant to walkers.

We have developed a comprehensive conceptual framework that will enable us to design and develop digital outcome assessments to quantify functional abilities, quality of movement, and other non-motor signs that are clinically meaningful for a heterogeneous group of adults living with SMA.

Sponsored by Biogen